RD3 - RD3 regulator of GUCY2D Gene

Also Known as LCA12; C1orf36

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 343035

About RD3

Cytogenetic location: 1q32.3 Genomic coordinates (GRCh38): 1:211,476,522-211,492,162 (from NCBI)

This gene has 3 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

RD3 Products (2)

mRNA	Protein	Name
NM_001164688.2	NP_001158160.1	protein RD3
NM_183059.3	NP_898882.1	protein RD3

RD3 Protein Structure

RD3

0
100
195 a.a.

Protein Preferred Names	Protein Names
protein RD3	retinal degeneration 3, GUCY2D regulator

RD3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RD3	Q7Z3Z2	EHMT2	Homo sapiens	A2ABF9	Y2H Array	25416956
Intra	RD3	Q7Z3Z2	CABP2	Homo sapiens	Q9NPB3	Validated Y2H	32296183
Intra	RD3	Q7Z3Z2	EIF2B1	Homo sapiens	Q14232	Validated Y2H	25416956
Intra	RD3	Q7Z3Z2	EIF2B1	Homo sapiens	Q14232	Y2H Array	32296183
Intra	RD3	Q7Z3Z2	EIF2B1	Homo sapiens	Q14232	Y2H Prey Pooling	32296183
Intra	RD3	Q7Z3Z2	EIF2B1	Homo sapiens	Q14232	Y2H Prey Pooling	25416956
Intra	RD3	Q7Z3Z2	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	RD3	Q7Z3Z2	EHMT2	Homo sapiens	Q96KQ7	Validated Y2H	32296183
Intra	RD3	Q7Z3Z2	EHMT2	Homo sapiens	Q96KQ7	Y2H Array	32296183
Intra	RD3	Q7Z3Z2	EHMT2	Homo sapiens	Q96KQ7	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

RD3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810129	RD3 Antibody (YA9473)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Leber Congenital Amaurosis 12	LCA12 Leber Congenital Amaurosis, Type 12
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Retinal Degeneration	Degeneration Of Retina
Cone-Rod Dystrophy 6	CORD6 Retinal Cone Dystrophy 2 Rcd2 Dystrophy, Cone-Rod, Type 6 Retinitis Pigmentosa 6 Progressive Cone Degeneration Cone Dystrophy
Intellectual Developmental Disorder, Autosomal Dominant 3	MRD3 Autosomal Dominant Non-Syndromic Intellectual Disability 3 Mental Retardation, Autosomal Dominant 3 Autosomal Dominant Intellectual Developmental Disorder 3
Bardet-Biedl Syndrome 13	BBS13 Bardet-Biedl Syndrome, Type 13
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Absolute Glaucoma	Blind Hypertensive Eye Glaucoma Absolute
Pseudopapilledema
Leber Congenital Amaurosis 15	LCA15 Leber Congenital Amaurosis, Type 15
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Guam Disease Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam Als-Pdc Lytico-Bodig Disease Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome Parkinsonism-Dementia-Als Complex Pdals Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam Parkinson-Dementia Complex Of Guam G-Pdc Guam Parkinsonism-Dementia Complex ALS-PDC1 Als/Pdc Of Guam Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1 Amyotrophic Lateral Sclerosis, Guam Form Parkinsonian Disorders
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
Waardenburg Syndrome, Type 3	Waardenburg Syndrome Type 3 Klein-Waardenburg Syndrome WS3 Waardenburg Syndrome With Upper Limb Anomalies Waardenburg Syndrome Type Iii Waardenburg Syndrome, Type Iii White Forelock Syndrome With Multiple Congenital Malformations Waardenburg Syndrome With Limb Anomalies Waardenburg Syndrome 3 White Forelock With Malformations Klein'S Syndrome
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Adrenal Neuroblastoma	Neuroblastoma Of Adrenal Gland Adrenal Gland Neuroblastoma Neuroblastoma Nos
Supranuclear Palsy, Progressive, 1	Progressive Supranuclear Palsy Steele-Richardson-Olszewski Syndrome Supranuclear Palsy, Progressive Progressive Supranuclear Ophthalmoplegia Psp PSNP1 Familial Progressive Supranuclear Palsy Richardson'S Syndrome Psp Syndrome Progressive Supranuclear Palsy 1 Supranuclear Palsy Progressive Ophthalmoplegia, Supranuclear, Progressive Steele-Richardson-Olszewksi Syndrome
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100285	RD3-0028	Inhibitor	/	Unkown
HY-175532	M4 mAChR Modulator-2	Activator	/	Unkown
HY-179713	D2R/D3R/5-HT1AR agonist 1	Agonist	/	Unkown
HY-RS11796	RD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11797	RD3L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19868	Rd3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26367	Rd3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RD3	RGD	RGD:1593897
Bos taurus	RD3	VGNC	VGNC:33839
Felis catus	RD3	VGNC	VGNC:107928
Mus musculus	RD3	MGD	MGI:1921273
Macaca mulatta	RD3	VGNC	VGNC:106482
Others	RD3	NCBI